WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		disease Disease or Syndrome 1 9 0.730 None 1.000 6 9 2014 2019
CUI: C4749578
Disease: Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.040 None 1.000 4 2015 2019
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		disease Disease or Syndrome 1 7 0.700 None 1.000 2 7 2014 2015
CUI: C4016881
Disease: ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC 		disease Finding 3 6 0.100 None 0 1
CUI: C0153942
Disease: Benign neoplasm of esophagus
Benign neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 6 0.300 None 0
CUI: C0154059
Disease: Carcinoma in situ of esophagus
Carcinoma in situ of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 6 0.300 None 0
CUI: C0684328
Disease: Reasoning
Reasoning 		phenotype Mental Process 11 13 0.100 None 1.000 1 1 2011 2011
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease Disease or Syndrome 11 0.300 None 1.000 1 2012 2012
CUI: C1518716
Disease: Ovarian gonadoblastoma
Ovarian gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 11 0.100 None 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease Nervous System Diseases Disease or Syndrome 12 30 0.100 None 1.000 1 6 2014 2014
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 12 0.100 None 0
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		disease Anatomical Abnormality 13 4 0.100 None 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		disease Anatomical Abnormality 13 2 0.100 None 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 17 0.100 None 0
CUI: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		phenotype Finding 17 1 0.100 None 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C0206640
Disease: Ossifying Fibroma
Ossifying Fibroma 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2011 2011
CUI: C0266371
Disease: Streak ovary
Streak ovary 		disease Congenital Abnormality 21 0.100 None 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		phenotype Finding 21 0.100 None 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		phenotype Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Finding 23 0.100 None 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		phenotype Finding 23 0.100 None 0
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		disease Disease or Syndrome 26 2 0.100 None 0
CUI: C4021550
Disease: Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level 		phenotype Finding 26 0.100 None 0